Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C
Comprehensive Genetic Testing for Achondroplasia
Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C represents a cutting-edge genetic diagnostic test designed to identify specific mutations in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. This specialized analysis plays a crucial role in diagnosing achondroplasia, the most prevalent form of skeletal dysplasia affecting bone growth and development. The test specifically targets the G1138A and G1138C mutations, which account for over 99% of achondroplasia cases worldwide.
What This Test Measures and Detects
This advanced genetic analysis precisely identifies mutations at nucleotide position 1138 in the FGFR3 gene:
- G1138A mutation: The most common mutation causing achondroplasia
- G1138C mutation: The second most frequent mutation associated with the condition
- Normal FGFR3 gene sequence: Confirming absence of these specific mutations
The test utilizes Sanger Sequencing methodology, considered the gold standard for mutation detection in genetic diagnostics. This technique provides high accuracy and reliability in identifying these specific genetic alterations that disrupt normal bone growth and development.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Short stature with disproportionate limb length
- Characteristic facial features including prominent forehead and flattened nasal bridge
- Family history of achondroplasia or skeletal dysplasia
- Prenatal ultrasound findings suggestive of skeletal abnormalities
- Parents planning pregnancy with known family history of achondroplasia
- Individuals seeking genetic counseling for family planning purposes
Significant Benefits of Achondroplasia Testing
Undergoing this genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out achondroplasia with high precision
- Family Planning Guidance: Enables informed reproductive decisions
- Early Intervention: Facilitates timely medical management and monitoring
- Genetic Counseling: Provides essential information for affected families
- Peace of Mind: Offers clarity and reduces uncertainty about genetic status
Understanding Your Test Results
Interpretation Guidelines
Your test results will fall into one of these categories:
- Positive for Mutation: Detection of G1138A or G1138C mutation confirms achondroplasia diagnosis
- Negative for Mutation: Absence of these specific mutations suggests alternative causes for symptoms
- Inconclusive Results: Rare cases requiring additional testing or consultation
All positive results should be discussed with a qualified genetic counselor or medical geneticist who can provide comprehensive interpretation and guidance regarding implications for health management and family planning.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C |
| Discount Price | $226 USD |
| Regular Price | $300 USD |
| Turnaround Time | 10-12 Days |
| Sample Type | Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | Sanger Sequencing |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities nationwide. Our network of certified testing facilities ensures accessible genetic diagnostics for patients throughout the country.
Take Action Today
Don’t let uncertainty about genetic conditions affect your health decisions. Our Achondroplasia Mutation Analysis provides the clarity you need for informed medical choices and family planning. With our discounted price of $226 and comprehensive nationwide coverage, accessing advanced genetic testing has never been more convenient.
Book your test appointment today by calling our genetic specialists at +1(267) 388-9828 or schedule your consultation online. Take the first step toward genetic clarity and peace of mind.
Note: This test requires a doctor’s prescription for most cases. Prescription requirements may not apply for surgery preparation, pregnancy-related testing, or international travel documentation purposes. Consult with our genetic counselors for specific requirements.
